SERPINE1

Gene Information
 
Gene Symbol
SERPINE1
 
Aliases
PAI, PAI-1, PAI1, PLANH1
 
Entrez Gene ID
 
Gene Name
Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
 
Chromosomal Location
7q22.1
 
HGNC ID
 
Summary
This gene encodes a member of the serine proteinase inhibitor (serpin) superfamily. This member is the principal inhibitor of tissue plasminogen activator (tPA) and urokinase (uPA), and hence is an inhibitor of fibrinolysis. Defects in this gene are the cause of plasminogen activator inhibitor-1 deficiency (PAI-1 deficiency), and high concentrations of the gene product are associated with thrombophilia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq)
 
GeneCards ID
 
UniGene
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition Evidence Reference
GO:0001300 Biological process Chronological cell aging IEP 18974388
GO:0001525 Biological process Angiogenesis IEP 11866539
GO:0010469 Biological process Regulation of receptor activity IDA 8837777
GO:0010757 Biological process Negative regulation of plasminogen activation IMP 18835034
GO:0010951 Biological process Negative regulation of endopeptidase activity IDA 1695900
Protein Information
 
Protein Name
Plasminogen activator inhibitor 1
 
Function
This inhibitor acts as 'bait' for tissue plasminogen activator, urokinase, and protein C. Its rapid interaction with TPA may function as a major control point in the regulation of fibrinolysis
 
Refseq Proteins
 
UniProt
 
PDB
 
InterPro
 
Pfam
Pfam Accession Pfam ID
PF00079 Serpin Serpin (serine protease inhibitor)
 
KEGG
 
OMIM
 
Phenotype MIM ID
 
Interactions

Associated Diseases

Diseases References
Albuminuria 12631354, 9187410, 12676738, 17415547, 16416371, 15850548, 11140698
Anovulation 15516780, 9496335
Arterial thrombosis 10436140, 11037896, 12769655, 8363067, 17207964, 17206678, 17003924, 12221902, 9776340, 14614351, 17985503, 9569196, 10073948, 17414214, 10803689
Arteriosclerosis 12616975, 14963043, 10828475, 11769606, 14581407, 12231371, 19132220, 2144671, 8667502, 10500035
Cancer (breast carcinoma) 14652754, 11021826, 15274061, 17509745, 1730515, 8119299, 8852782, 19752858, 11592104, 9696396, 10930085, 12414627, 8852783, 8625226, 12176977
   
References
 
Primary:

Insulin resistance causes impaired vasodilation and hypofibrinolysis in young women with polycystic ovary syndrome.

Carmassi Franco, De Negri Ferdinando, Fioriti Roberta, De Giorgi Antonio, Giannarelli Chiara, Fruzzetti Franca, Pedrinelli Roberto, Dell'Omo Giulia, Bersi Chiara
Department of Internal Medicine, University of Pisa, via Roma 67, I-56126 Pisa, Italy. f.carmassi@int.med.unipi.it
Thromb Res. 2005;116(3):207-14. Epub 2005 Jan 1.
 
Supporting Literature:
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
 
Obesity, hyperinsulinemia, PCOS and hypertriglyceridemia 
PAI-1 4G/5G gene polymorphisms 
 
Related 
101 Chinese PCOS patients and 42 controls 
The PAI-1 gene 4G polymorphism is more common in women with PCOS than in normal women and, in concert with obesity, hyperinsulinemia, and hypertriglyceridemia, contributes to treatable, hypofibrinolytic, miscarriage-promoting, high PAI-1 activity. 
 
Pregnanacy loss 
675 4G/5G 
 
Direct 
67 women with PCOS, 70 healthy controls 
The carriers of polymorphism 4G are at greater risk for early pregnancy loss than those with 5G (61.45% as compared to 36.8%), which confirms that carriage of the polymorphism 4G/5G 675 gene PAI-1 has a specific in multifactorial pathogenesis and expression ofPCOS. 
 
 
-675 4G/5G 
NIH-NIHCD criteria, Rotterdam criteria 
Direct 
2,079 cases, 1,556 controls 
The meta-analysis study suggests that PAI-1 -675 4G/5G polymorphism may contribute to increasing susceptibility to PCOS in Asians and might be a promising marker for the susceptibility of PCOS 
 
 
-675 4G/5G 
 
Related 
79 PCOS, 79 healthy women 
PAI-1 levels are positively correlated with proinflammatory factors in PCOS group 
sVCAM-1, sICAM-1 
 
 
 
Related 
14 overweight women with and 13 overweight women without PCOS 
Women with PCOS have elevated inflammatory markers, which are partially reduced by weight loss 

Unreviewed Literature:

PubMed / PMC ID
Title Type of study
25219833
The -675 4G/5G polymorphism in the PAI-1 gene may not contribute to the risk of PCOS. 
Clinical study 
22154367
Effects of acupuncture and exercise on insulin sensitivity, adipose tissue characteristics, and markers of coagulation and fibrinolysis in women with polycystic ovary syndrome: secondary analyses of a randomized controlled trial. 
Effect of treatment 
21252248
Coagulation and fibrinolytic disturbances in women with polycystic ovary syndrome. 
Clinical study 

 

| © 2015, Biomedical Informatics Centre, NIRRH |
National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400 012
Tel: 91-22-24192104, Fax No: 91-22-24139412